Browse
Endocrinology and Metabolism Unit, ASL Pescara, Pescara, Italy
Search for other papers by Ines Bucci in
Google Scholar
PubMed
Search for other papers by Giulia Di Dalmazi in
Google Scholar
PubMed
Search for other papers by Cesidio Giuliani in
Google Scholar
PubMed
Search for other papers by Paola Russo in
Google Scholar
PubMed
Search for other papers by Beatrice Ciappini in
Google Scholar
PubMed
Search for other papers by Cristina Amatetti in
Google Scholar
PubMed
Search for other papers by Pierre Guarino in
Google Scholar
PubMed
Endocrinology and Metabolism Unit, ASL Pescara, Pescara, Italy
Search for other papers by Giorgio Napolitano in
Google Scholar
PubMed
Summary
We report the case of an 88-year-old man hospitalized for COVID-19 with persistently very high procalcitonin (proCt) levels despite infection resolution. Since proCt is an adjunct tumor marker in the diagnosis of medullary thyroid carcinoma (MTC), serum calcitonin (Ct) was also measured showing very high levels. Computed tomography (CT) scan showed the presence of a thyroid mass and neck ultrasound revealed a solid isoechoic, inhomogeneous, 50 mm nodule in the right thyroid lobe, extended into the mediastinum. Fine needle aspiration (FNA) of the thyroid nodule confirmed the diagnosis of MTC. An 18F-fluorodopa positron emission tomography/computed tomography (PET/CT) scan revealed the presence of distant metastases in ribs, vertebrae, in the right iliac wing and the liver. Since surgery was not feasible, the patient was started on cabozantinib 40 mg/dL. After 16 months the patient is still on cabozantinib at the same dose, he reports complete autonomy in daily life activities, and serum Ct is still elevated; however, the imaging evaluation does not show signs of disease progression.
Learning points
-
High procalcitonin serum values despite the absence of infection are suggestive of MTC.
-
Advanced MTC with multiple metastases can have an indolent course and can go unrecognized for years.
-
Cabozantinib is a valuable option for the treatment of advanced MTC.
Endocrinology and Metabolism Unit, ASL Pescara, Pescara, Italy
Search for other papers by Ines Bucci in
Google Scholar
PubMed
Search for other papers by Cesidio Giuliani in
Google Scholar
PubMed
Search for other papers by Giulia Di Dalmazi in
Google Scholar
PubMed
Search for other papers by Daniele Intraina in
Google Scholar
PubMed
Search for other papers by Donato Zotta in
Google Scholar
PubMed
Search for other papers by Alfio Ieraci in
Google Scholar
PubMed
Search for other papers by Livio Presutti in
Google Scholar
PubMed
Endocrinology and Metabolism Unit, ASL Pescara, Pescara, Italy
Search for other papers by Giorgio Napolitano in
Google Scholar
PubMed
Summary
Brain metastases as the first clinical presentation of a papillary thyroid carcinoma (PTC) are exceptional, while cavernous angiomas are common cerebral malformations. We report the case of a 36-year-old male with an incidental brain lesion mimicking a cavernous angioma on MRI. Gamma knife radiosurgery was performed, but after 6 months, the patient developed neurological symptoms, and a repeat brain MRI revealed a significant increase in the mass. The patient underwent neurosurgery, and the histological examination of the lesion revealed metastatic carcinoma of thyroid origin. PET–CT and neck ultrasound, subsequently performed, were concordant for the presence of a right lobe nodule and ipsilateral lymph nodes, both with ultrasound features suspicious of malignancy. Total thyroidectomy with central and right lateral neck dissection was performed, and histology confirmed an intrathyroidal multifocal PTC with lymph node metastases. Postoperative radioiodine was administered, and focal uptake within the thyroid bed, without distant metastases or brain remnants, was found on the post-therapeutic whole-body scan. At 2 years from diagnosis, the patient is in good health and undergoes clinical and imaging follow-up.
Learning points
-
Brain cavernous angiomas are common cerebral vascular malformations that are usually diagnosed by MRI.
-
Despite the high accuracy of MRI, the exam is not pathognomonic, and misdiagnosis cannot be excluded.
-
Brain metastases from PTC are very rare; however, they can mimic a cavernous angioma. Therefore, the differential diagnosis should always be considered.
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Gold Coast Hospital and Health Service, Gold Coast, Cairns, Queensland, Australia
Search for other papers by R K Dharmaputra in
Google Scholar
PubMed
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Search for other papers by C M Piesse in
Google Scholar
PubMed
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Search for other papers by S Chaubey in
Google Scholar
PubMed
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Search for other papers by A K Sinha in
Google Scholar
PubMed
Department of Surgery, Cairns Hospital, Cairns, Queensland, Australia
Search for other papers by H C Chiam in
Google Scholar
PubMed
Summary
A 48-year-old Asian male, presented to the hospital for an elective total thyroidectomy in the context of 6.3 cm thyroid nodule. The fine needle aspiration cytology of the nodule confirmed papillary thyroid cancer (PTC) with some atypical histiocytes. He has a history of idiopathic arginine vasopressin deficiency (AVP-D) and has been taking oral DDAVP 100 µg daily, self-adjusting the dose based on thirst and polyuria. Additionally, he also has a history of recurrent spontaneous pneumothorax. His total thyroidectomy was aborted due to significant intraoperative bleeding, and his admission was further complicated by post-operative hyponatraemic seizure. Thyroid histology revealed the diagnosis of Langerhans cell histiocytosis (LCH), and further investigation with contrast CT demonstrated multi-organ involvement of the thyroid, lungs, and bones.
Learning points
-
Langerhans cell histiocytosis (LCH) is a condition that can affect one or more organ systems, including the pituitary, where it can present as AVP deficiency. Strict monitoring of fluid balance, as well as serial monitoring of serum sodium, is essential in all patients with AVP-D in the perioperative setting.
-
Iatrogenic hyponatraemic seizure is an uncommon but serious complication of DDAVP treatment in hospitalised patients with AVP-D. DDAVP dosing must be carefully monitored.
-
LCH with multisystem involvement is an important mimic for metastatic conditions, and histological diagnosis is essential to guide treatment and prognosis.
-
Although LCH without bone marrow involvement is unlikely to increase the risk of bleeding, its effect on tissue integrity may make surgery more challenging.
-
BRAF-V600E mutation is an important driver mutation and a potential therapeutic target in the treatment of LCH.
Search for other papers by John J Orrego in
Google Scholar
PubMed
Search for other papers by Joseph A Chorny in
Google Scholar
PubMed
Summary
Unlike medullary thyroid carcinomas, follicular cell-derived thyroid malignancies have rarely been associated with paraneoplastic endocrine syndromes. An ultrarare case of a middle-aged man with heavily treated broadly metastatic radioactive iodine-refractory widely invasive Hürthle cell carcinoma (HCC) of the thyroid with two synchronous paraneoplastic endocrine syndromes, T3 thyrotoxicosis and hypercalcemia of malignancy, is discussed here. The levothyroxine-induced T3 thyrotoxicosis was a gradual process that became more noticeable as the tumor burden, refractory to different modalities of therapy, expanded. The 1,25-dihydroxyvitamin-D-mediated hypercalcemia, on the other hand, developed in a manner of weeks, as it usually happens. It is important to emphasize that in patients with metastatic Hürthle cell and follicular carcinomas of the thyroid, on TSH suppressive therapy, the unexplained and progressive decline in FT4 and rise in FT3 levels, resulting in an elevated FT4/FT3 ratio, could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from the prohormone T4 into the active metabolite T3 via outer ring deiodination.
Learning points
-
Albeit extremely rare, some patients with thyroid cancer can present with more than one concomitant paraneoplastic syndrome.
-
Although medullary thyroid carcinoma is the thyroid malignancy that is usually associated with paraneoplastic endocrine syndromes, follicular cell-derived thyroid cancers have been rarely described as being the culprit.
-
In patients with metastatic Hürthle cell and follicular thyroid carcinomas, the unexplained and progressive decline in FT4 and rise in FT3 levels could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from T4 into T3 leading to T3 thyrotoxicosis.
Search for other papers by Andreia Amado in
Google Scholar
PubMed
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Elisabete Teixeira in
Google Scholar
PubMed
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Sule Canberk in
Google Scholar
PubMed
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto, R. Jorge de Viterbo Ferreira 228, 4050-313 Porto, Portugal
Search for other papers by Sofia Macedo in
Google Scholar
PubMed
Search for other papers by Bárbara Castro in
Google Scholar
PubMed
Search for other papers by Hugo Pereira in
Google Scholar
PubMed
Search for other papers by João Varanda in
Google Scholar
PubMed
Search for other papers by Susana Graça in
Google Scholar
PubMed
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Amélia Tavares in
Google Scholar
PubMed
Search for other papers by Carlos Soares in
Google Scholar
PubMed
Search for other papers by Maria João Oliveira in
Google Scholar
PubMed
Search for other papers by Manuel Oliveira in
Google Scholar
PubMed
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Paula Soares in
Google Scholar
PubMed
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Centro Hospitalar Universitário São João, Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Manuel Sobrinho Simões in
Google Scholar
PubMed
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, R. Alfredo Allen 208, 4200-135 Porto, Portugal
IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal
Faculdade de Medicina da Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Antónia Afonso Póvoa in
Google Scholar
PubMed
Summary
We report a 61-year-old male patient without personal history of thyroid carcinoma or radiation exposure. In 2011, he presented with a cervical mass whose biopsy diagnosed a papillary thyroid carcinoma (PTC) in a lymph node metastasis (LNM). Total thyroidectomy with lymphadenectomy of central and ipsilateral compartment was performed. Histopathology identified a 2 mm follicular variant of PTC and LNM in 25/25 lymph nodes. The patient was treated with 150 mCi of radioactive iodine (RAI), followed by levothyroxine suppressive therapy. In 2016, a retrotracheal mass was diagnosed, suggesting local recurrence; patient was submitted to surgical excision and RAI therapy (120 mCi). Due to seizures, in 2019, a brain CT was performed that diagnosed brain metastases. The patient underwent debulking of the main lesion. Histopathology analysis confirmed a metastatic lesion with variated morphology: classical PTC and follicular pattern and hobnail and tall cell features. Molecular analysis revealed BRAFV600E in LNM at presentation and BRAFV600E and TERT promoter (TERTp) mutations in the recurrent LNM and brain metastasis. Based upon this experience we review the reported cases of subcentimetric PTC with brain metastases and discuss the molecular progression of the present case.
Learning points
-
Papillary microcarcinoma (PMCs) usually have very good prognosis with low impact on patient survival.
-
PMCs presenting in elderly patients with LNM at diagnosis may carry a guarded outcome.
-
Brain metastasis although rare indicate aggressive phenotypic features.
-
Patient risk stratification of PMCs based on histopathological analysis and genetic testing may have a significant impact on prognosis providing therapeutic markers, that may predict disease progression and overall outcome.
Search for other papers by Ekaterina Kim in
Google Scholar
PubMed
Search for other papers by Ekaterina Bondarenko in
Google Scholar
PubMed
Search for other papers by Anna Eremkina in
Google Scholar
PubMed
Search for other papers by Petr Nikiforovich in
Google Scholar
PubMed
Search for other papers by Natalia Mokrysheva in
Google Scholar
PubMed
Summary
A 59-year-old male presented with an accidental thyroid mass in 2022. Ultrasound and CT scan showed a nodule 5.2 × 4.9 × 2.8 cm (EU-TIRADS 4) in the right lobe of the thyroid gland. Taking into account the results of the fine needle aspiration biopsy (Bethesda V), intrathyroid localization, and absence of clinical symptoms, a malignant tumor of the thyroid gland was suspected. The patient underwent total thyroidectomy using fluorescence angiography with indocyanine green, and two pairs of intact parathyroid glands were visualized in typical localization. Unexpected histological and immunohistochemistry examinations revealed parathyroid carcinoma. Due to the asymptomatic course of the disease and atypical localization of parathyroid tumor, primary hyperparathyroidism was not suspected before the surgery. The diagnosis of asymptomatic intrathyroid parathyroid cancer is a serious diagnostic challenge for a wide range of specialists.
Learning points
-
Parathyroid cancer is a rare disease that may be asymptomatic.
-
Intrathyroidal localization of parathyroid carcinoma is casuistic and challenging for diagnosis, and the treatment strategy is not well defined.
-
Preoperative parathyroid hormone and serum calcium testing are recommended for patients with solid thyroid nodules (Bethesda IV–V).
Search for other papers by Evangelos Karvounis in
Google Scholar
PubMed
Search for other papers by Ioannis Zoupas in
Google Scholar
PubMed
Search for other papers by Dimitra Bantouna in
Google Scholar
PubMed
Center for Diabetes and Endocrine Research, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, USA
Search for other papers by Rodis D Paparodis in
Google Scholar
PubMed
Search for other papers by Roxani Efthymiadou in
Google Scholar
PubMed
Search for other papers by Christina Ioakimidou in
Google Scholar
PubMed
Search for other papers by Christos Panopoulos in
Google Scholar
PubMed
Summary
Large-cell neuroendocrine carcinoma (LCNEC) is a rare neuroendocrine prostatic malignancy. It usually arises after androgen deprivation therapy (ADT), while de novo cases are even more infrequent, with only six cases described. The patient was a 78-year-old man with no history of ADT who presented with cervical lymphadenopathy. Diagnostic approaches included PET/CT, MRI, CT scans, ultrasonography, biopsies, and cytological and immunohistochemical evaluations. Results showed a poorly differentiated carcinoma in the thyroid gland accompanied by cervical lymph node enlargement. Thyroid surgery revealed LCNEC metastasis to the thyroid gland. Additional metastases were identified in both the adrenal glands. Despite appropriate treatment, the patient died of the disease. De novo LCNEC of the prostate is a rare, highly aggressive tumor with a poor prognosis. It is resistant to most therapeutic agents, has a high metastatic potential, and is usually diagnosed at an advanced stage. Further studies are required to characterize this tumor.
Learning points
-
De novo LCNECs of the prostate gland can metastasize almost anywhere in the body, including the thyroid and adrenal glands.
-
LCNECs of the prostate are usually associated with androgen-depriving therapy, but de novo cases are also notable and should be accounted for.
-
Further studies are required to fully understand and treat LCNECs more effectively.
Search for other papers by George Brown in
Google Scholar
PubMed
Search for other papers by Anthony Mark Monaghan in
Google Scholar
PubMed
Search for other papers by Richard Fristedt in
Google Scholar
PubMed
Search for other papers by Emma Ramsey in
Google Scholar
PubMed
Search for other papers by Ma’en Al-Mrayat in
Google Scholar
PubMed
Search for other papers by Rushda Rajak in
Google Scholar
PubMed
Search for other papers by Thomas Armstrong in
Google Scholar
PubMed
Search for other papers by Arjun Takhar in
Google Scholar
PubMed
Summary
Vasoactive intestinal peptide-secreting tumours (VIPomas) are an extremely rare form of functional pancreatic neuroendocrine tumour with an estimated annual incidence of 1 in 10 million. Associated tumour hypersecretion of other peptides, including pancreatic polypeptide (PPomas), may also be seen. These malignancies classically present with a defined triad of refractory diarrhoea, hypokalaemia and metabolic acidosis known as Verner–Morrison syndrome. Diagnosis is frequently delayed, and the majority of patients will have metastatic disease at presentation. Symptoms are usually well controlled with somatostatin analogue administration. Here we report a case of metastatic mixed VIPoma/PPoma-induced diarrhoea causing renal failure so severe that ultrafiltration was required to recover adequate renal function.
Learning points
-
Profuse, watery diarrhoea is a common presenting complaint with a multitude of aetiologies. This, combined with the rarity of these tumours, makes diagnosis difficult and frequently delayed. A functional neuroendocrine tumour should be suspected when diarrhoea is unusually extreme, prolonged and common causes have been promptly excluded.
-
These patients are likely to be profoundly unwell on presentation. They are extremely hypovolaemic with dangerous electrolyte and metabolic abnormalities. Aggressive initial rehydration and electrolyte replacement are imperative. A somatostatin analogue should be commenced as soon as the diagnosis is suspected.
-
This is an extreme example of Verner–Morrison syndrome. We are unaware of another case where renal failure secondary to diarrhoea and dehydration was so severe that renal replacement therapy was required to restore adequate renal function, further emphasising how critically unwell these patients can be.
-
Both the primary tumour and metastases showed a remarkably good and rapid response to somatostatin analogue administration. Cystic change and involution were noted on repeat imaging within days.
-
Prior to his illness, this patient was extremely high functioning with no medical history. His diagnosis was an enormous psychological shock, and the consideration and care for his psychological well-being were a crucial part of his overall management. It highlights the importance of a holistic approach to cancer care and the role of the clinical nurse specialist within the cancer multidisciplinary team.
Search for other papers by Jenny S W Yun in
Google Scholar
PubMed
Search for other papers by Chris McCormack in
Google Scholar
PubMed
Search for other papers by Michelle Goh in
Google Scholar
PubMed
University of Melbourne, Parkville, Victoria, Australia
Search for other papers by Cherie Chiang in
Google Scholar
PubMed
Summary
Acanthosis nigricans (AN) is a common dermatosis associated with hyperinsulinemia and insulin resistance. However, AN has been rarely reported in patients with insulinoma, a state of persistent hyperinsulinemia. We present a case of metastatic insulinoma, in whom AN manifested after the first cycle of peptide receptor radionuclide therapy (PRRT). A 40-year-old man was diagnosed with metastatic insulinoma after 5 months of symptomatic hypoglycemia. Within 1 month post PRRT, the patient became euglycemic but developed a pigmented, pruritic rash which was confirmed on biopsy as AN. We discuss the rare manifestation of AN in subjects with insulinoma, the role of insulin in the pathogenesis of AN, malignant AN in non-insulin-secreting malignancies and association with other insulin-resistant endocrinopathies such as acromegaly.
Learning points
-
Acanthosis nigricans (AN) is a common dermatosis which is typically asymptomatic and associated with the hyperinsulinemic state.
-
Malignant AN can rapidly spread, cause pruritus and affect mucosa and the oral cavity.
-
AN is extremely rare in patients with insulinoma despite marked hyperinsulinemia.
-
Peptide receptor radionuclide therapy might have triggered TGF-α secretion in this subject which led to malignant AN.
-
Rapid spread or unusual distribution of pruritic AN warrants further investigation to exclude underlying malignancy.
Institute of Radiology, University of Padova, Padova, Italy
Search for other papers by Filippo Crimì in
Google Scholar
PubMed
Search for other papers by Giulio Barbiero in
Google Scholar
PubMed
Endocrine Disease Unit, University of Padova, Padova, Italy
Search for other papers by Irene Tizianel in
Google Scholar
PubMed
Nuclear Medicine Unit, University-Hospital of Padova, Padova, Italy
Search for other papers by Laura Evangelista in
Google Scholar
PubMed
Endocrine Disease Unit, University of Padova, Padova, Italy
Search for other papers by Filippo Ceccato in
Google Scholar
PubMed
Summary
A 61-year-old man went to the Emergency Department with left upper abdominal quadrant pain and low-grade fever, as well as a loss of weight (3 kg in 6 weeks). A solid-cystic lesion in the left adrenal lodge was discovered by abdominal ultrasonography. A slight increase in the serum amylase with normal lipase was observed, but there were no signs or symptoms of pancreatitis. A contrast-enhanced CT revealed a tumor that was suspected of adrenocortical cancer. Therefore, he was referred to the endocrine unit. The hormonal evaluation revealed no signs of excessive or inadequate adrenal secretion. To characterize the mass, an MRI was performed; the lesion showed an inhomogeneous fluid collection with peripheral wall contrast-enhancement, as well as a minor 18-fluorodeoxyglucose uptake at PET/CT images. The risk of primary adrenal cancer was minimal after the multidisciplinary discussion. An acute necrotic collection after focal pancreatitis was suspected, according to the characteristics of imaging. Both CT-guided drainage of the necrotic accumulation and laboratory analysis of the aspirated fluid confirmed the diagnosis.
Learning points
-
Different types of expansive processes can mimic adrenal incidentalomas.
-
Necrotic collection after acute focal pancreatitis could be misdiagnosed as an adrenal mass, since its CT characteristics could be equivocal.
-
MRI has stronger capacities than CT in differentiating complex lesions of the adrenal lodge.
-
A multidisciplinary approach is fundamental in the management of patients with a newly discovered adrenal incidentaloma and equivocal/suspicious imaging features (low lipid content and size >4 cm).
